Canonical Allele Identifier: CA466129586

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235505-C-A
• MyVariant Identifiers: chr9:g.98997787C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235505C>A , CM000671.2:g.96235505C>A	GRCh38
NC_000009.11:g.98997787C>A , CM000671.1:g.98997787C>A	GRCh37
NC_000009.10:g.98037608C>A	NCBI36
NG_008157.1:g.71648G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.738G>T	ENSP00000364411.2:p.Leu246=
ENST00000375263.8:c.888G>T MANE Select	ENSP00000364412.3:p.Leu296=
ENST00000463517.2:n.2430G>T
ENST00000464104.6:n.1826G>T
ENST00000467499.6:c.*587G>T	ENSP00000498077.1:n.*587G>T
ENST00000494814.6:n.438G>T
ENST00000643789.1:c.3180G>T
ENST00000648146.1:c.1026G>T	ENSP00000497238.1:n.1026G>T
ENST00000648332.1:c.565G>T	ENSP00000497562.1:n.565G>T
ENST00000650005.1:c.817G>T	ENSP00000498121.1:n.817G>T
ENST00000375262.3:c.738G>T	ENSP00000364411.2:p.Leu246=
ENST00000375263.7:c.888G>T	ENSP00000364412.3:p.Leu296=
ENST00000464104.5:n.741G>T
ENST00000467499.5:n.148G>T
ENST00000494814.5:n.447G>T
NM_000197.1:c.888G>T	NP_000188.1:p.Leu296=
XM_005251970.3:c.528G>T	XP_005252027.1:p.Leu176=
XM_011518618.1:c.888G>T	XP_011516920.1:p.Leu296=
XM_011518619.1:c.888G>T	XP_011516921.1:p.Leu296=
XM_011518620.1:c.780G>T	XP_011516922.1:p.Leu260=
NM_000197.2:c.888G>T MANE Select	NP_000188.1:p.Leu296=
XM_011518618.2:c.888G>T	XP_011516920.1:p.Leu296=
XM_011518619.2:c.888G>T	XP_011516921.1:p.Leu296=
XM_017014671.1:c.888G>T	XP_016870160.1:p.Leu296=
XM_017014672.1:c.888G>T	XP_016870161.1:p.Leu296=
XM_017014673.2:c.852G>T	XP_016870162.1:p.Leu284=
XM_017014674.1:c.780G>T	XP_016870163.1:p.Leu260=
XM_017014675.1:c.726G>T	XP_016870164.1:p.Leu242=
XM_017014677.1:c.528G>T	XP_016870166.1:p.Leu176=
XM_024447529.1:c.726G>T	XP_024303297.1:p.Leu242=
XR_002956778.1:n.3360G>T